Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23086
Gene Symbol: EXPH5
EXPH5
0.010 GeneticVariation disease BEFREE Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. 30016581 2018